Allele Registry

Canonical Allele Identifier: PA2828686552

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146477

ClinVar Variation:

158998

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363835.1:p.Leu228Pro	CA271928 NM_001376906.1:c.683T>C